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The New England Journal of Medicine, ISSN 0028-4793, 09/2010, Volume 363, Issue 12, pp. 1189 - 1190
..., or erythropoietin-hypersensitive erythropoiesis, in patients with congenital erythrocytosis related to an erythropoietin-receptor mutation... 
MEDICINE, GENERAL & INTERNAL | PREVALENCE | Polycythemia - genetics | Proteins - genetics | Phenotype | DNA Mutational Analysis | Humans | Janus Kinase 2 - genetics | Codon, Nonsense | Mutation, Missense | Bone marrow | Mutation | Lymphocytes | Pathogenesis
Journal Article
JOURNAL OF BACTERIOLOGY, ISSN 0021-9193, 06/2019, Volume 201, Issue 11
...). Consequently, mutants lacking DegP display a temperature-sensitive growth defect, presumably due to the toxic accumulation of misfolded OMPs... 
COMPLEX | DegP protease | STRESS-RESPONSE | INVOLVEMENT | SENSOR | MICROBIOLOGY | SIGMA(E) | bacterial envelope | DegS | BAMA | Tol-Pal complex | OUTER-MEMBRANE PROTEINS | envelope stress | GENES | sigma E | LIPOPROTEINS | PROTEASE | Sigma Factor - metabolism | Temperature | Stress, Physiological | Heat-Shock Proteins - deficiency | Heat-Shock Proteins - genetics | Adaptation, Physiological - genetics | Periplasmic Proteins - genetics | Escherichia coli - metabolism | Serine Endopeptidases - genetics | Membrane Proteins - metabolism | Sigma Factor - genetics | Serine Endopeptidases - deficiency | Protein Structure, Secondary | Membrane Proteins - genetics | Cell Wall - genetics | Models, Molecular | Escherichia coli Proteins - metabolism | Transcription Factors - genetics | Transcription Factors - metabolism | Phenotype | Escherichia coli - genetics | Cell Wall - metabolism | Escherichia coli Proteins - genetics | Protein Binding | Periplasmic Proteins - metabolism | Mutation | Gene Expression Regulation, Bacterial | Amino Acid Substitution | Cell culture | Phenotypes | Data points | Genetic suppression | Outer membrane proteins | Homeostasis | Revertants | Mutants | Membrane proteins | Genotype & phenotype | Missense mutation | E coli | Protease | Temperature effects | Lysis | Evolution | Bacteria | Cellular stress response | Index Medicus
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 05/2010, Volume 285, Issue 21, pp. 15866 - 15873
Journal Article
Journal Article
Nature genetics, ISSN 1546-1718, 2013, Volume 45, Issue 12, pp. 1439 - 1445
Journal Article
Nature medicine, ISSN 1546-170X, 2014, Volume 20, Issue 12, pp. 1410 - 1416
... and multiple autoimmune clinical features. We identified a heterozygous nonsense mutation in exon 1 of CTLA4... 
PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURE | HOMEOSTASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | AUTOIMMUNITY | REGULATORY T-CELLS | GERMLINE MUTATIONS | MICE | BLOCKADE | IMMUNODEFICIENCY | ABATACEPT | Recurrence | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Exons | Immune System Diseases - genetics | Humans | Middle Aged | Male | Anemia, Hemolytic, Autoimmune - genetics | Mutation, Missense | Respiratory Tract Infections - genetics | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Young Adult | Purpura, Thrombocytopenic, Idiopathic - immunology | Adult | Female | Endocytosis - genetics | Polyendocrinopathies, Autoimmune - genetics | Child | Endocytosis - immunology | Granuloma - genetics | Autoimmune Diseases - immunology | CTLA-4 Antigen - genetics | B7-1 Antigen - metabolism | Codon, Nonsense | CTLA-4 Antigen - immunology | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Lung Diseases, Interstitial - immunology | Animals | B-Lymphocytes - immunology | Lung Diseases, Interstitial - genetics | Pedigree | Anemia, Hemolytic, Autoimmune - immunology | Adolescent | Respiratory Tract Infections - immunology | Granuloma - immunology | Heterozygote | Mice | Antigens | Gene mutations | Physiological aspects | Genetic aspects | Immunologic diseases | Research | Risk factors | Proteins | Homeostasis | Cytotoxicity | Ligands | T cell receptors | Mutation | Immune system
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1410 - 1419.e13
...). Known genetic causes for HIES are mutations in signal transducer and activator of transcription 3 (STAT3... 
Allergy and Immunology | glycosylation | Hyper-IgE syndrome | signal transducer and activator of transcription 3 | phosphoglucomutase 3 | Staphylococcus aureus | dedicator of cytokinesis 8 | DESIGN | DOCK8 | STAT3 | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | PROBES | ALLERGY | CLONING | CONGENITAL DISORDERS | MUTASE | Job Syndrome - immunology | Cell Proliferation | Job Syndrome - genetics | T-Lymphocytes - enzymology | Humans | Genetic Diseases, Inborn - genetics | Immunoglobulin E | Infant | Male | Mutation, Missense | Job Syndrome - enzymology | Adult | Female | Child | Tunisia | Genetic Linkage | Phosphoglucomutase - metabolism | Genetic Diseases, Inborn - immunology | Glycosylation | Chromosomes, Human, Pair 6 - genetics | Homozygote | Chromosomes, Human, Pair 6 - metabolism | Genetic Diseases, Inborn - enzymology | T-Lymphocytes - immunology | Phosphoglucomutase - immunology | Immunity - genetics | Phosphoglucomutase - genetics | Amino Acid Substitution | Enzymes | Polysaccharides | Molecular genetics | Stem cells | Physiological aspects | Mycoses | Genetic aspects | Cellular signal transduction | Disease susceptibility | Genetic transcription | Proteins | Signal transduction | Cell growth | Polypeptides | Disease | Values | Mutation | Tetanus | Kinases | Chromosomes | T-Lymphocytes | Genetic Diseases, Inborn | Chromosomes, Human, Pair 6 | Immunity | Phosphoglucomutase | Life Sciences | Immunology | Job Syndrome | PGM3
Journal Article
The EMBO Journal, ISSN 0261-4189, 04/2016, Volume 35, Issue 8, pp. 831 - 844
Journal Article